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Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa

Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%–30% of these cases are autosomal dominant retinitis pigmentosa (adRP). Like other forms of inherited retinal disease, adRP is exceptionally heterogeneous. Mutations in more than 25 genes are known to cause adRP, more than 1...

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Publicado en:Cold Spring Harb Perspect Med
Main Authors: Daiger, Stephen P., Bowne, Sara J., Sullivan, Lori S.
Formato: Artigo
Idioma:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2015
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4588133/
https://ncbi.nlm.nih.gov/pubmed/25304133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a017129
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